Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02047:Btbd7'

184970

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB (POZ) domain containing 7

Synonyms

FUP1, E130118E17Rik, 5730507E09Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

IGL02047

Quality Score

Status

Chromosome

Chromosomal Location

102780797-102878471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102793779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 637 (S637G)

Ref Sequence

ENSEMBL: ENSMUSP00000152426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045652] [ENSMUST00000223554]

AlphaFold

Q8CFE5

Predicted Effect

probably benign
Transcript: ENSMUST00000045652
AA Change: S637G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: S637G

Domain	Start	End	E-Value	Type
BTB	142	244	1.57e-13	SMART
BTB	247	397	2.23e-4	SMART
BACK	402	538	1.49e-4	SMART
low complexity region	626	640	N/A	INTRINSIC
low complexity region	756	771	N/A	INTRINSIC
low complexity region	783	792	N/A	INTRINSIC
low complexity region	808	822	N/A	INTRINSIC
low complexity region	839	850	N/A	INTRINSIC
low complexity region	1076	1088	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223554
AA Change: S637G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	T	17: 33,067,301	V176M	probably damaging	Het
A730049H05Rik	G	T	6: 92,831,928		probably benign	Het
Ank3	A	G	10: 69,892,494	N681S	possibly damaging	Het
Arpp19	T	G	9: 75,056,776	S137A	probably damaging	Het
Bmp2	T	C	2: 133,560,976	L149P	probably damaging	Het
Bpifb1	T	C	2: 154,202,616	M1T	probably null	Het
Cyp51	T	A	5: 4,099,244	H211L	possibly damaging	Het
Cyth1	C	A	11: 118,169,132	Q333H	probably damaging	Het
Dennd5a	G	A	7: 109,934,784	T67M	possibly damaging	Het
Dse	A	T	10: 34,162,845	Y51*	probably null	Het
Dynlt3	A	T	X: 9,656,426	Y76*	probably null	Het
Fabp12	T	C	3: 10,247,718		probably benign	Het
Galr1	A	T	18: 82,405,993	L53Q	probably damaging	Het
Igkv4-70	A	T	6: 69,267,927	D103E	probably damaging	Het
Il2	T	C	3: 37,125,851	N19S	probably benign	Het
Jhy	T	C	9: 40,917,180	I477V	probably benign	Het
Kcnk4	A	G	19: 6,926,258	S308P	probably benign	Het
Lipo3	A	T	19: 33,557,162	I299K	probably benign	Het
Mark3	T	A	12: 111,618,363	I131N	probably damaging	Het
Msr1	A	G	8: 39,623,960	V137A	probably benign	Het
Nf1	T	A	11: 79,425,535	V482E	probably benign	Het
Pcsk1	T	C	13: 75,097,989	V162A	probably benign	Het
Plekhb1	A	G	7: 100,655,299	V47A	probably damaging	Het
R3hcc1l	G	A	19: 42,563,819	M418I	probably benign	Het
Slc24a4	T	C	12: 102,254,623	F438L	probably damaging	Het
Slc38a5	G	T	X: 8,273,640	V127L	possibly damaging	Het
Szt2	A	G	4: 118,376,637		probably benign	Het
Tdh	A	T	14: 63,496,958	H80Q	probably benign	Het
Tshz3	A	C	7: 36,770,468	K627N	probably damaging	Het
Usp28	C	T	9: 49,035,641	P791S	probably damaging	Het
Wdr81	A	G	11: 75,445,506	Y1686H	probably damaging	Het
Xpot	G	T	10: 121,601,362		probably benign	Het
Zfand4	G	A	6: 116,314,928	G627R	probably damaging	Het

Other mutations in Btbd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02899:Btbd7	APN	12	102837662	missense	probably damaging	1.00
IGL03204:Btbd7	APN	12	102807980	nonsense	probably null
H8562:Btbd7	UTSW	12	102788302	missense	probably benign	0.26
IGL03050:Btbd7	UTSW	12	102812806	missense	probably benign	0.03
R1262:Btbd7	UTSW	12	102787951	missense	probably benign
R1423:Btbd7	UTSW	12	102785475	missense	possibly damaging	0.49
R1437:Btbd7	UTSW	12	102788090	missense	possibly damaging	0.59
R1636:Btbd7	UTSW	12	102793851	missense	probably damaging	1.00
R1641:Btbd7	UTSW	12	102790775	missense	probably damaging	1.00
R1722:Btbd7	UTSW	12	102812654	missense	possibly damaging	0.96
R1921:Btbd7	UTSW	12	102793796	missense	probably benign	0.01
R2021:Btbd7	UTSW	12	102790709	missense	probably damaging	1.00
R2180:Btbd7	UTSW	12	102785897	missense	probably damaging	1.00
R3768:Btbd7	UTSW	12	102795192	missense	probably damaging	1.00
R3770:Btbd7	UTSW	12	102795192	missense	probably damaging	1.00
R3786:Btbd7	UTSW	12	102838152	missense	probably benign	0.22
R4396:Btbd7	UTSW	12	102785293	missense	probably benign	0.00
R4809:Btbd7	UTSW	12	102793744	critical splice donor site	probably null
R4910:Btbd7	UTSW	12	102808048	missense	probably damaging	0.98
R4915:Btbd7	UTSW	12	102837787	nonsense	probably null
R5054:Btbd7	UTSW	12	102838212	missense	probably benign	0.02
R5276:Btbd7	UTSW	12	102838392	missense	probably benign	0.00
R5387:Btbd7	UTSW	12	102837785	missense	probably damaging	0.99
R5665:Btbd7	UTSW	12	102785197	missense	probably benign
R7083:Btbd7	UTSW	12	102788335	missense	probably damaging	0.99
R7354:Btbd7	UTSW	12	102838205	missense	probably benign	0.05
R7429:Btbd7	UTSW	12	102837780	missense	probably damaging	1.00
R7462:Btbd7	UTSW	12	102837722	missense	possibly damaging	0.88
R7469:Btbd7	UTSW	12	102812768	missense	probably damaging	0.99
R7998:Btbd7	UTSW	12	102795240	missense	probably damaging	1.00
R8499:Btbd7	UTSW	12	102788372	missense	probably damaging	1.00
R8773:Btbd7	UTSW	12	102837982	missense	probably benign	0.02
R8783:Btbd7	UTSW	12	102788242	missense	probably benign	0.45
R8968:Btbd7	UTSW	12	102812766	missense	probably damaging	1.00
R9016:Btbd7	UTSW	12	102785158	missense	probably damaging	1.00
R9027:Btbd7	UTSW	12	102838579	missense	probably damaging	1.00
R9216:Btbd7	UTSW	12	102795304	missense	probably damaging	1.00
R9221:Btbd7	UTSW	12	102811171	missense	probably damaging	1.00
X0024:Btbd7	UTSW	12	102812686	nonsense	probably null
X0025:Btbd7	UTSW	12	102811164	missense	probably benign	0.06
Z1177:Btbd7	UTSW	12	102811120	missense	probably damaging	1.00

Posted On

2014-05-07